Cacna2d2 - SNV Details



 Human Rare Diseases 
Early infantile epileptic encephalopathy

 Gene Information 
Gene Name Cacna2d2
Gene Description calcium channel, voltage-dependent, alpha 2/delta subunit 2 [Source:MGI Symbol;Acc:MGI:1929813]
Uniprot Name
CCDS Name
Gene GO
metal ion binding; neuromuscular junction development; rhythmic synaptic transmission; calcium ion transport; protein binding; SRP-dependent cotranslational protein targeting to membrane; positive regulation of organ growth; muscle fiber development; GTP binding; voltage-gated calcium channel complex; regulation of multicellular organism growth; voltage-gated calcium channel activity
Homolog in other species CACNA2D2
Omim http://omim.org/entry/607082
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, SPINALCORDLOWER, SPINALCORDUPPER, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000010066
Chromosome 9
Coordinate 107,522,116     (Assembly: GRCm38)    
Ref Base G
Codon Change Gtt/Att
Var Base A
Zygosity Heterozygous
Read Depth 79
Allele Frequency
G:R0.53
A:V0.46
Amino Acid Position 669
Amino Acid Change Disrupted splicing
Splice Position 7
Sample ID IGL02001
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Sift Score 0.47
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability